Bone Marrow Disorders

Question 1

What is Pure Red Cell Aplasia (PRCA)?

Answer 1

a type of anemia affecting the precursors to red blood cells but not to white blood cells, or platelets.

Question 2

What are Pure Red Cell Aplasia (PRCA) Characteristics?

Answer 2

a severe reduction in the number of reticulocytes in the peripheral blood and absence of erythroid precursors in the bone marrow

Question 3

What are Pure Red Cell Aplasia (PRCA) Causes?

Answer 3

Autoimmune disease. Thymoma. Viral infections. Large granular lymphocyte leukemia. Idiopathic
Congenital - Diamond-Blackfan anemia.

Question 4

How is Pure Red Cell Aplasia (PRCA) Diagnosis made?

Answer 4

normocytic normochromic anemia. absolute reticulocyte count <10,000/microL. normal WBC and platelet counts. normocellular bone marrow with normal myelopoiesis and megakaryocytopoiesis, but few if any erythroid precursors

Question 5

What is Pure Red Cell Aplasia (PRCA) Treatment?

Answer 5

red cell transfusions for symptomatic anemia. cessation of possible offending drugs.Treatment of the underlying condition

Question 6

What is Myelophthisic Anemia?

Answer 6

severe anemia due to the displacement of hemopoietic bone-marrow tissue into the peripheral blood, either by fibrosis, tumors or granulomas.

Question 7

What are Myelophthisic Anemia Causes?

Answer 7

Chronic myeloproliferative disease (e.g. myelofibrosis).Leukemia/Lymphoma. Metastatic carcinoma or myeloma. linked to small-cell lung cancer, breast cancer and prostate cancer that metastasizes to the bone marrow

Question 8

How is Myelophthisic Anemia Diagnosis made?

Answer 8

Blood smear: erythrocytes that contain nuclei or are tear drop-shaped (dacryocytes), or immature granulocyte precursor cells. Bone marrow biopsy shows replacement of the normal bone marrow by fibrosis, malignancy or other infiltrative process.

Question 9

What are Myelophthisic Anemia Treatment options?

Answer 9

treatment of the underlying cause/cancer.

Question 10

What is Myelodysplastic syndrome (myelodysplasia or MDS)?

Answer 10

hematopoietic stem cell disorders characterized by dysplastic and ineffective blood cell production.

Question 11

What is the Morphologic hallmark of MDS?

Answer 11

Dysplasia of one or more cell lines

Question 12

Why is MDS also know as “preleukemia”?

Answer 12

it has a variable risk of transformation to acute leukemia (occurs in up to 40% of patients)

Question 13

What are possible systemic complications of MDS?

Answer 13

Anemia, Bleeding, Increased risk of infection

Question 14

What is the epidemiology of MDS?

Answer 14

the elderly, with a median age at diagnosis of between 60-80 years.

Question 15

What lab results are seen with MDS?

Answer 15

macro-, normocytic (occasionally microcytic) anemia. oval macrocytes on peripheral smear. Neutropenia. Thrombocytopenia. Differentiated from AML by the presence of less than 20% blasts.

Question 16

Patients with MDS have a variable reduction in the production of ?

Answer 16

normal red blood cells, platelets, and mature granulocytes.

Question 17

How do you treat MDS?

Answer 17

Consider transplant in the young, or investigational Rx. supportive (RBC transfusions, treat infections). Growth factors, erythropoietin effective in some patients

Question 18

What are MDS Indicators of a good prognosis?

Answer 18

Younger age. Normal or moderately reduced neutrophil or platelet counts. Low blast counts in the bone marrow(<20%) and no blasts in the blood;
No Auer rods. Normal karyotypes without complex chromosome abnormalities

Question 19

What is aplastic anemia?

Answer 19

characterized by peripheral pancytopenia and accompanied by a hypocellular bone marrow.

Question 20

What can cause Stem cell failure?

Answer 20

1-Direct stem cell injury (Radiation, chemotherapy, toxins, meds). 2 – Autoimmune suppression of hematopoiesis – most common. 3 – Rarely SLE

Question 21

What are Secondary Aplastic Anemia Causes?

Answer 21

Meds/ toxins (Chloramphenicol, carbamazapine, indomethacin, cimetidine, sulfas, acetazolamide, lithium, human growth hormone). Radiation
Viruses. Paroxysmal Nocturnal Hemoglobinurea. Malnutrition. Myelodysplastic syndromes.Thymoma

Question 22

What are symptoms of aplastic anemia?

Answer 22

pancytopenia: pallor, mucosal bleeding, ecchymoses, or petechiae. infections. Hyperplastic gingivitis

Question 23

What are expected lab results of aplastic anemia?

Answer 23

Pancytopenia, Normocytic-normochromic anemia, Low reticulocytes. Bone marrow biopsy-Empty fatty spaces, Few hematopoietic cells or Lymphocytes and plasma cells

Question 24

What are Aplastic Anemia Treatment options?

Answer 24

Withdrawal of the etiologic agent. Blood and platelet transfusion. Allogeneic BMT. Immunosuppression (Cyclosporin + ATG, Corticosteroids, cyclophosphamide)

Question 25

What is Fanconi Anemia (FA)?

Answer 25

genetic defect which causes the majority of FA patients to develop AML and bone marrow failure by age 40. Higher frequency in Ashkenazi Jews and Afrikaners in South Africa.

Question 26

When is FA diagnosed?

Answer 26

as neonates/infants if abnormalities. Others may be diagnosed when hematological problems occur. age of onset of pancytopenia is 7. First develop macrocytosis, then thrombocytopenia, and eventually neutropenia.

Question 27

What genetic tests help confirm FA diagnosis?

Answer 27

Chromosome fragility test: Mitomycin C (MMC) or diepoxybutane (DEB) added to lymphoctyes – increases the number of chromosome breaks and radial structures

Question 28

How is FA Initially managed?

Answer 28

Refer for genetic counseling.Testing of siblings. Renal ultrasound, hearing test, eye exa,. Endocrine evaluation (check growth hormone levels, TSH). Bone marrow biopsy

Question 29

What are FA treatment options?

Answer 29

Transfusions. Androgens (oral oxymethalone) can improve blood counts.Growth factors. BMT. FA cells are very sensitive to radiation and alkylating agents – can use greatly reduced doses

Question 30

describe Embryonic stem cells

Answer 30

come from a five to six-day-old embryo. They have the ability to form virtually any type of cell found in the human body.

Question 31

describe Embryonic germ cells

Answer 31

derived from the part of a human embryo or fetus that will ultimately produce eggs or sperm (gametes).

Question 32

describe Adult stem cells

Answer 32

undifferentiated cells found among specialized or differentiated cells in a tissue or organ after birth. have a more restricted ability to produce different cell types and to self-renew.

Question 33

What are potential graft sources?

Answer 33

Allogeneic: from another person. Syngeneic: from an identical twin. Autologous: from the patient. Umbilical cord blood

Question 34

Describe Autologous Transplant use and its effects

Answer 34

No evidence of disease in the blood or bone marrow
Transplant related mortality (TRM) lowest with autos (<5%). Relapse rates are higher. Absence of graft versus host effects

Question 35

Describe Allogeneic Transplant use and its effects

Answer 35

High TRM (30-50%). Lower relapse rates. Graft versus host effects

Question 36

Describe the use of Umbilical Cord Blood and its effects

Answer 36

Cryopreserved, Small number of stem cells. Higher incidence of engraftment failure. Lower risk of GVHD. Degree of matching not as stringent. used for myeloablative or nonmyeloablative conditioning

Question 37

What are Early complications of stem cell transplants?

Answer 37

Mucositis, Sinusoidal obstructive syndrome (VOD), Fluid retention, jaundice, hepatomegaly, Transplant related infections, Damage to mouth, gut and skin, Prolonged neutropenia

Question 38

What are Delayed complications of stem cell transplants?

Answer 38

Chronic GVHD, Scleroderma or Sjogrens syndrome, Bronchiolitis, Keratoconjunctivitis, Malabsorption, Cholestasis, Esophageal stricture

Question 39

What are Late complications of stem cell transplants?

Answer 39

Secondary Tumors (Acute leukemias, solid tumors, MDS). Late Infections-Need repeat vaccinations
Pneumovax, Hep B, Hemophilus influenza b, poliovirus, diphtheria/tetanus, flu